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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Chediak-Higashi Syndrome: Pathognomonic Feature
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Glycogen-Storage Disease Type II
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Niemann-Pick Disease Type C: Two Cases and an Update
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Diagnosis and Treatment of Wilson's Disease
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Niemann-Pick Disease Type C from Bench to Bedside
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Wilson Disease
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Fucosidosis Revisited:A Review of 77 Patients
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Neurologic Crises in Hereditary Tyrosinemia
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Acid Maltase Deficiency
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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The Cerebrohepatorenal (Zellweger) Syndrome
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Idiopathic Hemochromatosis (IHC) :Dementia & Ataxia as Presenting Signs
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Lafora Disease:Diagnosis by Liver Biopsy
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Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
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The Mucopolysaccharidoses
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A 60-Year-Old Man with Weakness and Gait Dysfunction
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
A 6-Year-Old Girl with Progressive Toe Walking
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More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Alzheimers Disease
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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